[NewTangDynastyNewsBeijingtimeNovember192022]A 36-year-old Spanish woman has suffered from 12 diseases in 34 yearsthe tumor, 5 of which were malignant but survived. Doctors were baffled that she had survived to this point, let alone survived so many malignancies.Through the study of its cases, a cure may be foundcancerbreakthrough.
According to “Newsweek” reported on November 7, the woman suffered from the first disease when she was two years old.the tumor, and new tumors appear every few years thereafter.To understand the mechanisms behind this extraordinary susceptibility, the Spanish NationalcancerResearchers at the research center took a sample of her blood to screen for hereditary cancer.Gene mutationbut the result was not found.
It was only later when the researchers analyzed the patient’s entire genome that they found what they were looking for — two mutated copies of the gene MAD1L1. “MAD1 is a protein encoded by the gene MAD1L1, which ischromosomeA key regulator for proper segregation,” Marcos Malumbres, head of the cell division and cancer group at the Spanish National Cancer Research Center, told Newsweek.
When a cell is ready to divide, it creates 46chromosomeCopies of each of these chromosomes are tightly coiled around the cell’s DNA. These chromosomes are then paired with their copies and lined up along the center of the cell, and the cell divides evenly in two, with each daughter cell containing one copy of all chromosomes.
The MAD1 protein stops cells from dividing until all of the chromosomes in the cell are properly aligned along this cell center. “In the absence of MAD1, cells divide prematurely and produce daughter cells with an abnormal number of chromosomes,” says Maren Brace.
Having an unusual number of chromosomes can wreak havoc on a cell’s metabolism, giving rise to tumors. Therefore, an abnormal number of chromosomes is one of the hallmark features of cancer.
“This is the first description of homozygous mutations in MAD1L1,” he said. “Mutations in both copies of MAD1L1 in mice resulted in embryonic lethality.” In other words, it was a miracle that the patient survived the first stages of embryonic development. “Cell division and proliferation are particularly important during embryonic development, when all tissues need to form,” he said. “Thus, mutations in MAD1L1 lead to developmental problems such as microcephaly, skeletal problems, etc. Due to these developmental problems and high susceptibility to multiple pathogenic mechanisms, patients are constantly monitored in the clinic.”
Despite these considerations, however, the patient has been able to lead a fairly “normal” life: “She has a job, lives alone, and has no intellectual disability,” he said.
Perhaps even more surprising is the ease with which she beat 5 very aggressive forms of cancer. The researchers believe that this is likely to be related to the patient’s immune system.
“The data suggest that the immune system is able to recognize cells with an abnormal number of chromosomes due to the MAD1L1 mutation,” Malumbres said. “Since the patient is constantly producing abnormal cells, the immune system is also constantly being activated. We can speculate that this overactivation of the immune system may favor a strong response to tumor cells.immune response。」
The researchers hope to use this finding to better understand the immune system’s defense against tumor cells with an abnormal number of chromosomes. With any luck, this knowledge could pave the way for the development of new treatments for cancer.
(Reposted from The Epoch Times/Editor in charge: Ye Ping)
URL of this article: https://www.ntdtv.com/b5/2022/11/19/a103578178.html